Literature DB >> 30462148

A novel mutation in 5'-UTR of Makorin ring finger 3 gene associated with the familial precocious puberty.

Wenli Lu1, Junqi Wang1, Chuanyin Li2,3, Manqing Sun1, Ronggui Hu2,3, Wei Wang1.   

Abstract

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Year:  2018        PMID： 30462148     DOI： 10.1093/abbs/gmy124

Source DB:  PubMed          Journal:  Acta Biochim Biophys Sin (Shanghai)        ISSN： 1672-9145            Impact factor:   3.848


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  6 in total

Review 1.  Genetic causes of central precocious puberty.

Authors:  Toshihiro Tajima
Journal:  Clin Pediatr Endocrinol       Date:  2022-05-29

2.  Central Precocious Puberty Caused by Novel Mutations in the Promoter and 5'-UTR Region of the Imprinted MKRN3 Gene.

Authors:  Pavlos Fanis; Nicos Skordis; Meropi Toumba; Nikoletta Papaioannou; Anestis Makris; Andreas Kyriakou; Vassos Neocleous; Leonidas A Phylactou
Journal:  Front Endocrinol (Lausanne)       Date:  2019-10-04       Impact factor: 5.555

3.  MKRN3-mediated ubiquitination of Poly(A)-binding proteins modulates the stability and translation of GNRH1 mRNA in mammalian puberty.

Authors:  Chuanyin Li; Tianting Han; Qingrun Li; Menghuan Zhang; Rong Guo; Yun Yang; Wenli Lu; Zhengwei Li; Chao Peng; Ping Wu; Xiaoxu Tian; Qinqin Wang; Yuexiang Wang; Vincent Zhou; Ziyan Han; Hecheng Li; Feng Wang; Ronggui Hu
Journal:  Nucleic Acids Res       Date:  2021-04-19       Impact factor: 16.971

4.  Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty.

Authors:  Vassos Neocleous; Pavlos Fanis; Meropi Toumba; Barbara Gorka; Ioanna Kousiappa; George A Tanteles; Michalis Iasonides; Nicolas C Nicolaides; Yiolanda P Christou; Kyriaki Michailidou; Stella Nicolaou; Savvas S Papacostas; Athanasios Christoforidis; Andreas Kyriakou; Dimitrios Vlachakis; Nicos Skordis; Leonidas A Phylactou
Journal:  Front Endocrinol (Lausanne)       Date:  2021-09-24       Impact factor: 5.555

Review 5.  MKRN3 role in regulating pubertal onset: the state of art of functional studies.

Authors:  Stefania Palumbo; Grazia Cirillo; Francesca Aiello; Alfonso Papparella; Emanuele Miraglia Del Giudice; Anna Grandone
Journal:  Front Endocrinol (Lausanne)       Date:  2022-09-16       Impact factor: 6.055

6.  A novel heterozygous MKRN3 nonsense mutation in a Chinese girl with idiopathic central precocious puberty: A case report.

Authors:  Meijuan Liu; Lijun Fan; Chun Xiu Gong
Journal:  Medicine (Baltimore)       Date:  2020-09-18       Impact factor: 1.817
  6 in total

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